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The National Strategic Action Plan for Rare Diseases (the Action Plan) was launched in 2020 by the Federal Minister for Health with bipartisan support. The Action Plan is the first nationally coordinated effort to address rare diseases in Australia. Developed by the rare disease sector, for the rare disease sector, the Action Plan provides a comprehensive policy framework.

As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) led the collaborative development of the Action Plan in 2018 and 2019 through an extensive nation-wide multistakeholder consultation process.

Action Plan Implementation

RVA is working in partnership with stakeholders to support the collaborative implementation of the Action Plan, recognising that implementation is the shared responsibility across the entire rare disease sector. Alongside stakeholders, RVA continues to advocate for action to address gaps and inequities in rare disease awareness and education, care and support, and research and data. RVA is also leading collective efforts to encourage investment in nationally networked Rare Disease Centres of Expertise. In recognition of the broad impacts of rare diseases and the importance of a coordinated national approach, RVA is calling for the establishment of an Office for Rare Diseases within the Commonwealth Government.

Action Plan Vision

The best possible health and wellbeing outcomes for Australians living with a rare disease.

Priority Populations Identified in the Action Plan

  • Australians living with a rare disease
  • Australians living with an undiagnosed rare disease
  • Australians with an increased chance of developing a rare disease or of having a child with a rare disease
  • Aboriginal and Torres Strait Islander people
  • People living in regional, rural and remote areas
  • People from culturally and linguistically diverse (CALD) backgrounds
  • People experiencing socio-economic disadvantage

Subsequent implementation progress within the Care and Support Pillar informed the identification of Australians living with rare disease disability as an additional priority population.

Action Plan Pillars

Pillar 1: Awareness and Education

Why is This Important?
Increased awareness and education at the individual and community level is vital. It is common for people to have never heard of the rare disease with which they, or their child, are diagnosed. It can be difficult to find a practitioner who is educated about the disease. Yet, people living with a rare disease, and their families and carers, are reliant on services for both care and support.

Download the Awareness and Education Summary [PDF]

Progressing Implementation of the Awareness and Education Pillar
In partnership with a range of stakeholders, RVA is leading work on progressing implementation of the Awareness and Education Pillar. Key projects and examples include the ongoing development of the Rare Awareness Rare Education (RARE) Portal, RVA’s online education, which complements our mentorship and education activities, and engaging in the global annual Rare Disease Day campaign.

Pillar 2: Care and Support

Why is This Important?
Early diagnosis enables the best clinical care, treatment options, access to services, peer support, increased reproductive confidence and access to participation in clinical trials. Yet diagnostic delay and misdiagnosis are common in rare disease.

Download the Care and Support Summary [PDF]

Progressing Implementation of the Care and Support Pillar
In partnership with a range of stakeholders, RVA is leading work on progressing implementation of the Care and Support Pillar. Key projects and examples include the Rare Disease Disability Project, broader rare disease disability advocacy, and ongoing health technology assessment advocacy and reform.

Pillar 3: Research and Data

Why is This Important?
In Australia, data for most rare diseases is not captured in either health information systems or registries and there is no coordinated strategy to collect, measure, build and translate data that does exist. For key decision-makers at all levels, greater knowledge of rare diseases can facilitate more responsive and appropriate services for people living with a rare disease and their families and carers.

Download the Research and Data Summary [PDF]

Progressing Implementation of the Research and Data Pillar
In partnership with a range of stakeholders, RVA is leading work on progressing implementation of the Research and Data Pillar. Key projects and examples include measuring implementation of the Action Plan, the RARE Portal, RVA’s Research and Project Partnerships, progressing work on guidelines for Australian Rare Disease Centres of Expertise, Australia’s Top 10 Rare Disease Research Priorities, and facilitating the Australian Rare Disease Research Network.

Action Plan Companion Documents

Engaging with the rare disease community

A stocktake of rare disease activities in Australia

The evidence base for the National Strategic Action Plan for Rare Diseases

Monitoring the Collaborative Implementation of the Action Plan

Monitoring the collaborative implementation of the Action Plan is vital to understanding how the Action Plan is driving meaningful change across the rare disease sector. Stewardship of the Action Plan is a key focus area of RVA’s Strategic Plan for 2024-2027.

Between September and October 2022 and during February 2023, RVA conducted an activity scan—the first measure, at the time, of Action Plan progress since its launch in 2020—inviting the rare disease sector to share projects, initiatives and achievements.

Read the 2023 Status Report.

Understanding Impact Across the Rare Disease Sector Using the Most Significant Change Methodology

Measuring the systemic and human impact of the Action Plan requires more than counting and categorising activities. To address this challenge, in 2024, RVA staff engaged in training for the Most Significant Change (MSC) methodology.

The MSC methodology is a validated and flexible, person-centred evaluation framework that uses guided storytelling and independent review to identify the most meaningful changes from the perspectives of diverse stakeholders. RVA has adopted this framework as a core tool for monitoring progress across the rare disease sector.

RVA collects stories on an ongoing basis from all rare disease stakeholders, including people living with a rare disease, carers, advocates, health professionals, researchers, government and industry.

Emerging Themes:
What We Heard from Stakeholders in 2024-25

The MSC process conducted in 2024-25 involved the collection and summarising of stories from a wide range of stakeholders. The most significant of these stories were then identified through a story selection panel.

Several themes emerged across all stories: how collaboration has deepened with people and organisations working together in new ways; how policy conversations now include rare diseases more often; and how lived experience is increasingly recognised as essential in shaping decisions. Many described growing networks of support, better access to reliable rare disease information, diagnosis, treatment and care, and a stronger sense of community belonging.

Stories were then allocated into five ‘domains of change’ for the story selection panels:

  1. Knowledge and Capacity Building
  2. Equity and Access
  3. System and Policy Influence
  4. Collaboration and Innovation
  5. Empowerment and Participation

Stories were also anonymised and conflicts of interest accounted for.

While the stories were diverse, they pointed to a common thread–change is happening because stakeholders are working together.

For summaries of all MSC stories collected, please see RVA’s Annual Report 2025.

Change Domain:
Knowledge and Capacity Building

Linking Knowledge, Improving Care: The Power of a Multidisciplinary Rare Disease Network

This story was told by Professor Adam Jaffé. He is a professor of paediatrics at the University of New South Wales, a specialist respiratory physician and head of paediatrics and child health at Sydney Children’s Hospitals Network. Professor Jaffé actively contributes his clinical, academic and advocacy experience to advancing care and networks for children living with rare diseases in Australia. He is also Chair of RVA’s SMAC.

The most significant change has been the formation of a national and internationally connected multidisciplinary network for families affected by a rare lung disease – Children’s Interstitial Lung Disease – Australia and New Zealand (CHILD-RANZ). This network, which began as a grassroots community of practice, now conducts monthly multidisciplinary team meetings involving clinicians from across Australia, New Zealand, the United States and Malaysia. It has directly led to life-changing diagnoses and treatments, giving families access to a local physician connected to a readily accessible network of knowledge and expertise to support their care. The network has also strengthened Australia’s research capacity, influenced international guidelines, and led to the establishment of an internationally recognised registry.

Before this change, families were isolated, and clinical expertise was siloed. Children would be referred from as far as Perth, not through a national system, but through international colleagues who recognised Professor Jaffé’s expertise.

Selection panellists chose this story for its broad local and international reach and its multi-faceted, multi-stakeholder impact across families, clinicians and researchers. It was also selected for its replicability and potential to drive sustainable systemic change.

Change Domain:
Equity and Access

From Exclusion to Equity: Securing Fair Access to Life-Changing Therapies

This story was shared by RVA Partner, the Myasthenia Alliance Australia (MAA), the Australian peak body representing everyone with an interest in the conditions associated with Myasthenia Gravis (MG). The MAA is a partnership of all eligible state associations and operates to enhance the lived experience for people with these conditions. MG is a chronic autoimmune condition that disrupts communication between nerves and muscles, leading to weakness and fatigue.

The most significant change for our community since 2020, is the MAA’s successful advocacy for equitable access to a therapy for MG*. Through this work, the MAA built capacity and knowledge in HTA. This has enabled our organisation to be meaningfully involved in HTA and given us the confidence and expertise to contribute to broader policy advocacy for more equitable access to health technologies.

Before 2020, treatment options for people living with MG were extremely limited. Although one effective therapy was available on the Pharmaceutical Benefits Scheme (PBS) for more common conditions, it was not accessible to those with MG, leaving many to either pay significant out-of-pocket costs or go without.

Selection panellists chose this story because the change extends beyond the immediate issue, giving the community the confidence and capability for ongoing, policy-informed systemic advocacy.

*Update from the MAA: In April 2025, following sustained advocacy and input from the MAA and the MG community, the Pharmaceutical Benefits Advisory Committee recommended that all four available MG treatments be listed on the PBS.

Change Domain:
System and Policy Influence

Building Credibility and Influence: How the Action Plan Transformed the Rare Disease Sector

This story was told by Nicole Millis. Nicole is the Chief Executive Officer at RVA and has been part of the rare disease community for many years, both professionally and personally. Nicole was directly involved in development of the Action Plan.

The most significant change has been the Action Plan, which has provided a unifying framework and language that shifted the sector from desperation to constructive, solutions-focused conversations. Through the Action Plan, rare disease communities, often isolated and marginalised, now feel heard and part of a collective movement with influence. The Action Plan gave RVA and the sector credibility, visibility and confidence. It provided a constructive framework for advocacy, which enabled the sector to move from highlighting problems and gaining sympathy to a common and consistent language, which supported understanding and created a solutions-focused space that is less overwhelming and more helpful to policymakers. The result is greater trust and stronger relationships.

“What I think the Action Plan gives us is a way to have difficult conversations that wasn’t there before. It provides a framework and words that are less emotive and easier to hear, [that are] strengths-based, and more hopeful.”

Before the Action Plan, advocacy was fragmented, overwhelming and emotionally charged, with people sharing difficult problems all at once. While this was authentic, it was likely simplistic – there was a belief that if people understood how bad it was then things would get fixed. The Action Plan showed the sector that “we had to have our hand in the solutions.”

Selection panellists chose this story for its broad, systemic and sector-wide policy impact. They noted its tangible outcomes, including changes in the language used to describe rare disease community experiences and identity, particularly in advocacy and government discussions.

Change Domain:
Collaboration and Innovation

Two separate stories were selected for this change domain. One represents the most significant change for collaboration and the other for innovation.

Stronger Together: Collaboration Elevates a Rare Voice

This story was told by Kris Pierce. Kris is the co-founder and director of RVA Partner, SCN2A Australia, a rare disease organisation run by parent volunteers, which began in 2017 and has recently become a registered charity. Kris also has lived experience in rare disease and works in several advisory roles across the rare disease sector.

Working together and focusing on the collective benefits we can achieve across the rare disease space has been the most significant shift for me. Our collaborative approach has supported our work across all areas from healthcare and health system navigation, through to our involvement in research.

We are a small organisation representing a rare disease that affects around 40 families in Australia, with direct connections to just over half of them. Despite our small size and our focus on one rare disease, what we realised along the way is how similar our challenges are to those across other rare disease communities. This has led us to work more collaboratively with similar rare disease groups, including a larger organisation, which represents a more common diagnosis – one that is also a primary symptom for many in our rare disease community.

Linking with a larger organisation representing a common condition has really elevated the voice of our rare disease community. It has enabled us to reach a broader audience and leverage more funding and resources to progress change for our rare community.

One example of the difference our organisation has made is our success in advocating for compassionate treatment at a hospital for a precision medicine (not gene therapy) for one of our community members. It took six months of advocating to the hospital to take on the risk of treating a child with a life-threatening rare condition, and I truly believe it would not have been approved without the collaborative relationships we had built as an organisation, or the groundswell of awareness created by the Action Plan.

Selection panellists chose this story because it demonstrates how connecting rare disease communities with larger common disease groups can drive change for one family and set the precedent and momentum for broader change. This story demonstrated the impact of collaboration.

From Doubt to Discovery: Clinical Trials Arrive for Our Community 

This story was told by Meagan Cross. Meagan is a founding member and the current Chief Executive Officer of RVA Partner, the Foundation for Angelman Syndrome Therapeutics (FAST) – a research-focused rare disease charity organisation, which began in 2010. 

The most significant change for our community is the initiation of clinical trials overseas for our rare disease in 2020 and then the move to make these available in Australia. It took 10 years to see these new treatments coming into the clinic. While in the medical world this is fast, for families it was a slow process, and many lost hope at times. As of today, Australia is the only country in the world running four clinical trials for our rare disease. 

Despite advances in research, before 2020, there was still uncertainty around whether there would ever be a treatment for our rare disease. Even before we started the organisation in 2010, there was a belief that the condition our organisation represents may never be treatable. But we knew there was research being done. We had no idea who it would benefit and if adults would benefit at all, but we also knew our rare disease wasn't degenerative and we knew there was a genetic cause. So, we worked hard to change the way people thought about the potential for a treatment. 

Selection panellists chose this story for its holistic impact from lived experience to innovation. This story demonstrated the impact of innovation.

Change Domain:
Empowerment and Participation

Strengthening Unity and Recognition: The Impact of the Action Plan

This story was told by Sarah Cannata. Sarah is RVA’s Communications Manager and has been working in the rare disease sector for over 6 years. Sarah was directly involved in development of the Action Plan.

“For me, it’s hands down that the Action Plan has been the most significant change. People [the rare disease sector] see the Action Plan as their Action Plan, which it is… they helped to build and collaboratively develop the Action Plan. This created a sense of ownership over the Action Plan across the sector, and it has always been pitched as a document created “by the rare disease sector, for the rare disease sector.” Framing the Action Plan as a collective sector achievement is at the core of its success.”

Before 2020, rare disease advocacy and messaging was “a lot more disorganised and disjointed. Many different voices, and it was quite overwhelming. Post Action Plan launch, people are using the Action Plan… this has made messaging a little bit more consistent across the board.”

The Action Plan has given rare disease advocates a clear and strategic framework and has united and simplified the sector’s advocacy.

Selection panellists chose this story because it demonstrates the broad reach, awareness and overarching change for the sector given the Action Plan’s applicability to all rare disease stakeholders.